Germline POT1 variants can predispose to myeloid and lymphoid neoplasms

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Bibliographic Details
Published in:	Leukemia Vol. 36; no. 1; pp. 283 - 287
Main Authors:	Lim, Tristan L., Lieberman, David B., Davis, Adam R., Loren, Alison W., Hausler, Ryan, Bigdeli, Ashkan, Li, Yimei, Powers, Jacquelyn, Raper, Anna, Regeneron Genetics Center, Carty, Shannon A., Nathanson, Katherine L., Bagg, Adam, Hexner, Elizabeth O., Maxwell, Kara N., Morrissette, Jennifer J. D., Babushok, Daria V.
Format:	Journal Article
Language:	English
Published:	London Nature Publishing Group UK 01-01-2022 Nature Publishing Group
Subjects:	45/23 631/208/69 631/67/1990/2331 631/67/1990/291/1621 631/67/68 Adult Aged Aged, 80 and over Biomarkers, Tumor - genetics Cancer Research Critical Care Medicine Female Follow-Up Studies Genetic Predisposition to Disease Germ-Line Mutation Hematologic Neoplasms - genetics Hematologic Neoplasms - pathology Hematology Humans Intensive Internal Medicine Letter Leukemia, Myeloid, Acute - genetics Leukemia, Myeloid, Acute - pathology Lymphoma - genetics Lymphoma - pathology Male Medicine Medicine & Public Health Middle Aged Neoplasms Oncology Prognosis Shelterin Complex - genetics Telomere-Binding Proteins - genetics
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Bibliography:	SourceType-Other Sources-1 ObjectType-Article-1 content type line 63 ObjectType-Correspondence-2 AUTHOR CONTRIBUTIONS TLL and DVB collected and analyzed the data, performed literature review, and wrote and revised the manuscript. DBL and JJDM established the hematologic malignancies molecular panel at the Hospital of the University of Pennsylvania and performed clinical POT1 MPS. ARD and A. Bagg oversaw clinical hematopathology review and provided archived pathology specimens for germline validation. AWL contributed to clinical care for myeloid malignancy patients and provided leukemia and transplant expertise. RH and A. Bigdeli assisted with bioinformatic analysis of POT1 variants. YL performed statistical review. JP assisted with human subjects study design and provided clinical genetics expertise. Regeneron Genetics Center performed WES for PMBB control cohort. SAC provided lymphoma expertise and assisted clinicopathological correlation of lymphoma patients. AR and KLN provided clinical genetics expertise. KLN additionally provided critical manuscript revisions and variant classification expertise. KNM assisted with PMBB variant analysis and provided technical expertise for FFPE DNA extraction. EOH assisted with clinicopathological correlation of myeloid malignancy patients. DVB conceived and oversaw the study. All authors assisted with data analysis and edited and approved the final version of the manuscript.
ISSN:	0887-6924 1476-5551
DOI:	10.1038/s41375-021-01335-w